General Structure Information 3hy8 PNPO crystal structure of human pyridoxine 5-phosphate oxidase r229w mutant 2.5Å AUTH F.N.MUSAYEV,M.L.DI SALVO,M.A.SAAVEDRA,R.CONTESTABILE,AUTH 2 M.S.GHATGE,A.HAYNES,V.SCHIRCH,M.K.SAFOTITL MOLECULAR BASIS OF REDUCED PYRIDOXINE 5-PHOSPHATE OXIDASETITL 2 CATALYTIC ACTIVITY IN NEONATAL EPILEPTIC ENCEPHALOPATHYTITL 3 DISORDERREF J.BIOL.CHEM. V. 284 30949 2009REFN ISSN 0021-9258PMID 19759001DOI 10.1074/JBC.M109.038372 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2kav SCN2A solution structure of the human voltage-gated sodium channel, brain isoform (nav1.2) -1.0Å AUTH V.Z.MILOUSHEV,J.A.LEVINE,M.A.ARBING,J.F.HUNT,G.S.PITT,AUTH 2 A.G.PALMERTITL SOLUTION STRUCTURE OF THE NAV1.2 C-TERMINAL EF-HAND DOMAIN.REF J.BIOL.CHEM. V. 284 6446 2009REFN ISSN 0021-9258PMID 19129176DOI 10.1074/JBC.M807401200 Variant Set Distributions Mapped Variants
General Structure Information 3igu NAGA crystal structure of human alpha-n-acetylgalactosaminidase, covalent intermediate 2.15Å AUTH N.E.CLARK,S.C.GARMANTITL THE 1.9 A STRUCTURE OF HUMANTITL 2 ALPHA-N-ACETYLGALACTOSAMINIDASE: THE MOLECULAR BASIS OFTITL 3 SCHINDLER AND KANZAKI DISEASESREF J.MOL.BIOL. V. 393 435 2009REFN ISSN 0022-2836PMID 19683538DOI 10.1016/J.JMB.2009.08.021 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2ksr CHRNB2 nmr structures of tm domain of the n-acetylcholine receptor b2 subunit -1.0Å AUTH V.BONDARENKO,T.TILLMAN,Y.XU,P.TANGTITL NMR STRUCTURE OF THE TRANSMEMBRANE DOMAIN OF THETITL 2 N-ACETYLCHOLINE RECEPTOR BETA2 SUBUNIT.REF BIOCHIM.BIOPHYS.ACTA V.1798 1608 2010REFN ISSN 0006-3002PMID 20441771DOI 10.1016/J.BBAMEM.2010.04.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3ee6 TPP1 crystal structure analysis of tripeptidyl peptidase -i 2.35Å AUTH A.PAL,R.KRAETZNER,T.GRUENE,M.GRAPP,K.SCHREIBER,M.GRONBORG,AUTH 2 H.URLAUB,S.BECKER,A.R.ASIF,J.GARTNER,G.M.SHELDRICK,AUTH 3 R.STEINFELDTITL STRUCTURE OF TRIPEPTIDYL-PEPTIDASE I PROVIDES INSIGHT INTOTITL 2 THE MOLECULAR BASIS OF LATE INFANTILE NEURONAL CEROIDTITL 3 LIPOFUSCINOSISREF J.BIOL.CHEM. V. 284 3976 2009REFN ISSN 0021-9258PMID 19038966DOI 10.1074/JBC.M806947200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]